Variant report

Variant	rs7811214
Chromosome Location	chr7:65515276-65515277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65513896..65516806-chr7:65520299..65523244,2	K562	blood:

Variant related genes	Relation type
ENSG00000252997	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs313829	0.87[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs365896	0.87[MKK][hapmap];0.84[YRI][hapmap]
rs6460269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs7811214	RABGEF1	cis	lymphoblastoid	seeQTL
rs7811214	RP4-756H11.3	cis	Thyroid	GTEx
rs7811214	KCTD7	cis	parietal	SCAN
rs7811214	ATP2B3	trans	cerebellum	SCAN
rs7811214	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs7811214	ZNF138	cis	cerebellum	SCAN
rs7811214	GUSB	cis	cerebellum	SCAN
rs7811214	GUSB	cis	parietal	SCAN
rs7811214	RABGEF1	cis	cerebellum	SCAN
rs7811214	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs7811214	LOC168474	cis	cerebellum	SCAN
rs7811214	RP4-756H11.3	cis	Artery Tibial	GTEx
rs7811214	RP11-479O9.2	cis	Thyroid	GTEx
rs7811214	ZNF273	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65509800-65515800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:65509800-65517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:65513000-65515400	Weak transcription	Osteobl	bone
4	chr7:65513000-65515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:65513000-65515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:65513000-65515600	Weak transcription	HSMM	muscle
7	chr7:65513200-65515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:65513400-65515400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:65513400-65515400	Weak transcription	A549	lung
10	chr7:65513400-65515400	Weak transcription	Hela-S3	cervix
11	chr7:65513400-65515400	Weak transcription	NHLF	lung
12	chr7:65513400-65515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:65513400-65515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:65513400-65515800	Weak transcription	NH-A	brain
15	chr7:65513400-65515800	Weak transcription	NHEK	skin
16	chr7:65513600-65515600	Weak transcription	HMEC	breast
17	chr7:65514600-65515600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:65514600-65516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:65514600-65516600	Enhancers	Fetal Intestine Small	intestine
20	chr7:65514600-65517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:65514600-65517200	Enhancers	Fetal Intestine Large	intestine
22	chr7:65515000-65515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:65515200-65515400	Enhancers	HepG2	liver
24	chr7:65515200-65515800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:65515200-65516400	Enhancers	Fetal Lung	lung
26	chr7:65515200-65516600	Enhancers	Fetal Heart	heart
27	chr7:65515200-65516600	Enhancers	NHDF-Ad	bronchial

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